Submissions for variant NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)

gnomAD frequency: 0.00076  dbSNP: rs201236317

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214466	SCV000270223	likely benign	not specified	2015-02-19	criteria provided, single submitter	clinical testing	p.Gln345Lys in exon 7 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (135/66722) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201236317), and the glutamine (Gln) residue at position 345 is not evol utionarily conserved across species, with many species having a lysine (Lys) at this position.
Eurofins Ntd Llc (ga)	RCV000725783	SCV000339347	uncertain significance	not provided	2016-02-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000725783	SCV000981400	likely benign	not provided	2022-03-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000725783	SCV001216383	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000725783	SCV001918216	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725783	SCV001973743	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737337	SCV005344904	likely benign	ADGRV1-related disorder	2024-07-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).